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Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
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Accession:DOID:9002502 term browser browse the term
Synonyms:exact_synonym: HDBSCC;   JAM3-RELATED CONDITION
 primary_id: MIM:613730;   RDO:0009957

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Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        lens disease 559
          cataract 548
            Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              lens disease 559
                cataract 548
                  Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
paths to the root